Birgit Sikkema-Raddatz
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Explore the profile of Birgit Sikkema-Raddatz including associated specialties, affiliations and a list of published articles.
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Articles
58
Citations
1603
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Recent Articles
1.
Veldman A, Sikkema-Raddatz B, Derks T, van Karnebeek C, Kiewiet M, Mulder M, et al.
Int J Neonatal Screen
. 2025 Jan;
11(1.
PMID: 39846587
The biomarker-based Dutch Newborn Screening (NBS) panel (as of 2024) comprises 19 inherited metabolic disorders (IMDs). With the use of next-generation sequencing (NGS) as a first-tier screen, NBS could expand...
2.
de Boer E, Vroom V, Scheper A, Johansson L, Bosscher L, Rietema N, et al.
Sci Rep
. 2024 Apr;
14(1):8508.
PMID: 38605095
Leukemias are genetically heterogeneous and diagnostics therefore includes various standard-of-care (SOC) techniques, including karyotyping, SNP-array and FISH. Optical genome mapping (OGM) may replace these as it detects different types of...
3.
Kiewiet G, Westra D, de Boer E, van Berkel E, Hofste T, van Zweeden M, et al.
Int J Neonatal Screen
. 2024 Mar;
10(1).
PMID: 38535124
In this study, we compare next-generation sequencing (NGS) approaches (targeted panel (tNGS), whole exome sequencing (WES), and whole genome sequencing (WGS)) for application in newborn screening (NBS). DNA was extracted...
4.
Ghorbani F, de Boer E, Benjamins-Stok M, Verschuuren-Bemelmans C, Knapper J, de Boer-Bergsma J, et al.
Neurol Genet
. 2023 Dec;
9(1):e200050.
PMID: 38058854
Background And Objectives: The spinocerebellar ataxias (SCAs) are a genetically heterogeneous group of neurodegenerative disorders generally caused by single nucleotide variants (SNVs) or indels in coding regions or by repeat...
5.
van der Velde K, van den Hoek S, van Dijk F, Hendriksen D, van Diemen C, Johansson L, et al.
Adv Genet (Hoboken)
. 2023 Jan;
1(1):e10023.
PMID: 36619248
Despite an explosive growth of next-generation sequencing data, genome diagnostics only provides a molecular diagnosis to a minority of patients. Software tools that prioritize genes based on patient symptoms using...
6.
Alimohamed M, Boven L, van Dijk K, Vos Y, Hoedemaekers Y, van der Zwaag P, et al.
Gene
. 2022 Oct;
851:146984.
PMID: 36270459
Background: Splice prediction algorithms currently used in routine DNA diagnostics have limited sensitivity and specificity, therefore many potential splice variants are classified as variants of uncertain significance (VUSs). However, functional...
7.
Ghorbani F, Alimohamed M, Vilacha J, van Dijk K, de Boer-Bergsma J, Fokkens M, et al.
Front Genet
. 2022 Apr;
13:782685.
PMID: 35401678
Spinocerebellar ataxia (SCA) is a heterogeneous group of neurodegenerative disorders with autosomal dominant inheritance. Genetic testing for SCA leads to diagnosis, prognosis and risk assessment for patients and their family...
8.
Veldman A, Kiewiet M, Heiner-Fokkema M, Nelen M, Sinke R, Sikkema-Raddatz B, et al.
Int J Neonatal Screen
. 2022 Mar;
8(1).
PMID: 35323196
Newborn screening (NBS) aims to identify neonates with severe conditions for whom immediate treatment is required. Currently, a biochemistry-first approach is used to identify these disorders, which are predominantly inherited...
9.
Alimohamed M, Westers H, Vos Y, van der Velde K, Sijmons R, van der Zwaag P, et al.
Front Genet
. 2022 Mar;
13:824510.
PMID: 35299955
In the molecular genetic diagnostics of Mendelian disorders, solutions are needed for the major challenge of dealing with the large number of variants of uncertain significance (VUSs) identified using next-generation...
10.
de Groot-van der Mooren M, de Graaf G, Weijerman M, Hoffer M, Knijnenburg J, van der Kevie-Kersemaekers A, et al.
Prenat Diagn
. 2021 Jun;
41(10):1351-1359.
PMID: 34176145
Objective: To evaluate if non-invasive prenatal testing (NIPT) affects livebirth (LB) prevalence of Down syndrome (DS) in the Netherlands. Method: Data from clinical genetics laboratories and the Working Party on...